Results 91 to 100 of about 1,551 (187)

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Heliyon
Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity.
Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng   +13 more
doaj   +1 more source

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose [PDF]

, 2017
Deniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut, Serdar Ceylaner, Neslihan Önenli Mungan   +4 more
openalex   +1 more source

Sensitive visible spectrophotometric methods development for estimation of sapropterin dihydrochloride in tablet dosage form

, 2017
U. Viplava Prasad, M. Syam Bab, B. Kalyana Ramu   +2 more
openalex   +1 more source

Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability.

PLoS ONE
Tyrosinase, a copper-containing oxidase, plays a vital role in the melanin biosynthesis pathway. Mutations in the tyrosinase gene can disrupt the hydroxylation of tyrosine, leading to decreased production of 3,4-dihydroxyphenylalanine (DOPA ...
Wei Fan, Heng Li Ji, Mohibullah Kakar, Shabbir Ahmed, Hussah M Alobaid, Yasmeen Shakir   +5 more
doaj   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +1 more source

Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? [PDF]

, 2011
Anita MacDonald, Kirsten Ahring, Katharina Dokoupil, Hülya Gökmen-Özel, Anna Maria Lammardo, K Motzfeldt, Martine Robert, Júlio César Rocha, Margreet van Rijn, Amaya Bélanger-Quintana   +9 more
openalex   +1 more source

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

, 2014
Dorothy K. Grange, Richard E. Hillman, Barbara K. Burton, Shoji Yano, Jerry Vockley, Chin-To Fong, J. Hunt, John J. Mahoney, Jessica Cohen‐Pfeffer   +8 more
openalex   +1 more source

Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta‐analysis of randomized controlled trials [PDF]

, 2019
Jinghan Qu, Ting Yang, Ente Wang, Min Li, Chaoyang Chen, Lingyun Ma, Ying Zhou, Yimin Cui   +7 more
openalex   +1 more source

Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria

, 2017
Samantha Doyle, M O'Regan, C. Stenson, Jean Bracken, Una Hendroff, Asta Agasarova, Deirdre Deverell, Eileen P. Treacy   +7 more
openalex   +2 more sources

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes in Mice [PDF]

, 2018
Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S. Kucey, Bradley L. Urquhart, Thomas A. Drysdale, Kambiz Norozi, Qingping Feng   +7 more
openalex   +1 more source